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FG syndrome type 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Blepharophimosis-intellectual deficit syndrome, MKB type
1 OMIM reference -
1 associated gene
No signs/symptoms info
FG syndrome type 1
Blepharophimosis-intellectual deficit syndrome, MKB type

MED12
(UniProt - OMIM)
 MED12
(UniProt - OMIM)

COMMON
GENES 		MED12


Citations in the biomedical literature:


FG syndrome type 1
MED12
Blepharophimosis-intellectual deficit syndrome, MKB type



FG syndrome type 1
Blepharophimosis-intellectual deficit syndrome, MKB type

Synonym(s):
- Opitz-Kaveggia syndrome
Synonym(s):
- BMRS, MKB type
- BMRS, Maat-Kievit-Brunner type
- Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.